Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Anna Allroth"'
Autor:
Inga Köllner, Reinhard Schilke, Georg Bohn, Chozhavendan Rathinam, Anna Allroth, Christoph Klein, Kaan Boztug, Carmela Beger, Alejandro A. Schäffer, Inga Sandrock, Bodo Grimbacher, Karl Welte, Gudrun Brandes, Johannes Jung
Publikováno v:
Blood. 108:362-369
We report on the molecular etiology of an unusual clinical phenotype associating congenital neutropenia, thrombocytopenia, developmental delay, and hypopigmentation. Using genetic linkage analysis and targeted gene sequencing, we defined a homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd5226f26480c755897b2b5f143a1b8d
https://doi.org/10.1182/blood-2005-11-4377
https://doi.org/10.1182/blood-2005-11-4377
Autor:
Dietmar Pfeifer, Alejandro A. Schäffer, Dhaarini Murugan, Anna Allroth, Fatih Noyan, Daniel Kotlarz, Stephan Buderus, Mario Perro, E Gertz, Christoph Klein, Neil Shah, Kaan Boztug, Ulrich Baumann, Sibylle Koletzko, Ulrich Salzer, Karl-Walter Sykora, Nadine Hätscher, Jana Diestelhorst, Cristina Woellner, Scott B. Snapper, Anthony W. Segal, Martin Sauer, Bodo Grimbacher, Axel Sauerbrey, Erik Glocker, Rainer Nustede, Martin Lacher, Hans Kreipe
Publikováno v:
Journal of Translational Medicine
Journal of Translational Medicine, Vol 8, Iss Suppl 1, p I12 (2010)
Journal of Translational Medicine, Vol 8, Iss Suppl 1, p I12 (2010)
Methods We performed genetic linkage analysis and candidate gene sequencing in two unrelated consanguineous families with children affected by early-onset IBD. We screened six additional patients for mutations in two candidate genes and carried out f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575dc12b00a7473a8b4a307248c5b3b0
https://doi.org/10.1186/1479-5876-8-s1-i12
https://doi.org/10.1186/1479-5876-8-s1-i12
Autor:
Mario Perro, Fatih Noyan, Alejandro A. Schäffer, Scott B. Snapper, Christoph Klein, Axel Sauerbrey, Anna Allroth, Cristina Woellner, Dietmar Pfeifer, Ulrich Salzer, Hans Kreipe, Dhaarini Murugan, Ulrich Baumann, Martin Sauer, E. Michael Gertz, Erik-Oliver Glocker, Stephan Buderus, Jana Diestelhorst, Sibylle Koletzko, Nadine Hätscher, Bodo Grimbacher, Anthony W. Segal, Rainer Nustede, Neil Shah, Kaan Boztug, Daniel Kotlarz, Martin Lacher, Karl-Walter Sykora
Publikováno v:
The New England journal of medicine. 361(21)
The molecular cause of inflammatory bowel disease is largely unknown.We performed genetic-linkage analysis and candidate-gene sequencing on samples from two unrelated consanguineous families with children who were affected by early-onset inflammatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d63134c4746bcbb02d732e7997691e2
https://pubmed.ncbi.nlm.nih.gov/20842643
https://pubmed.ncbi.nlm.nih.gov/20842643
Autor:
Jan Buer, Erik Glocker, Lukas A. Huber, Christoph Klein, Nicole Taub, Anna Allroth, Georg Bohn, David Teis, Cornelia Zeidler, Jens Thiel, Alejandro A. Schäffer, Gudrun Brandes, Ricardo A Dewey, Bodo Grimbacher, Robert Geffers, Karl Welte, Chozhavendan Rathinam
Publikováno v:
Nature medicine. 13(1)
Lysosome-related organelles have versatile functions, including protein and lipid degradation, signal transduction and protein secretion. The molecular elucidation of rare congenital diseases affecting endosomal-lysosomal biogenesis has given insight
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ae4fa6b2083d421ad62ac41405d2e4
https://pubmed.ncbi.nlm.nih.gov/17206132
https://pubmed.ncbi.nlm.nih.gov/17206132
Autor:
Kaan Boztug, Mike E Gertz, Bodo Grimbacher, Mario Perro, Martin Lacher, Stefan Buderus, Rainer Nustede, Nadine Hätscher, Neil Shah, Fatih Noyan, Karl-Walter Sykora, Dietmar Pfeifer, Ulrich Baumann, Alejandro A. Schäffer, Erik Glocker, Jana Diestelhorst, Anthony W. Segal, Daniel Kotlarz, Hans Kreipe, Cristina Woellner, Scott B. Snapper, Axel Sauerbrey, Dhaarini Murugan, Sibylle Koletzko, Ulrich Salzer, Anna Allroth, Martin Sauer, Christoph Klein
Publikováno v:
Blood. 114:713-713
Abstract 713 In spite of recent genome-wide association studies, the molecular pathophysiology of many human auto-inflammatory diseases such as enterocolitis remains largely unknown. Here, we discover the first fully penetrant monogenetic defect caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08cf373a29bdc816e5c7d399824a68a7
https://doi.org/10.1182/blood.v114.22.713.713
https://doi.org/10.1182/blood.v114.22.713.713
Autor:
Lukas A. Huber, Jan Buer, Erik Glocker, Alejandro A. Schäffer, Karl Welte, Christoph Klein, Anna Allroth, Nicole Taub, David Teis, Georg Bohn, Robert Geffers, Jens Thiel, Gudrun Brandes, Cornelia Zeidler, Bodo Grimbacher
Publikováno v:
Blood. 106:92-92
We have investigated the molecular etiology of autosomal recessive congenital neutropenia in a pedigree of 15 members with four affected children. Combining genome wide linkage analysis and a transcriptional profiling approach, we identified a homozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cc42d8ea6f9ecb84acc6183c9dbe0ce
https://doi.org/10.1182/blood.v106.11.92.92
https://doi.org/10.1182/blood.v106.11.92.92
Publikováno v:
Inflammatory Bowel Disease: Translating basic science into clinical practice; 2010, p119-156, 38p
This is the state-of–the-art book on inflammatory bowel disease you have been waiting for Written and edited by international experts in gastroenterology this up-to-date volume provides a complete review of the basic science behind inflammatory bow
